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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
Recent breakthroughs in exome-sequencing technology have made possible the identification of many causal variants of monogenic disorders. Although extremely powerful when closely related individuals (eg, child and parents) are simultaneously sequenced, sequencing of a single case is often unsuccessf...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4795218/ https://ncbi.nlm.nih.gov/pubmed/25898925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.68 |
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